Taylor's Story: Remember The Girls

My name is Taylor Kane. I’m a rare disease advocate, passionate feminist, andlover of pizza with ranch dressing. When I was five years old my dad passed away from arare, deadly genetic disorder called Adrenoleukodystrophy, or ALD for short. ALDprimarily affects males and results in severe neurological impairment, ultimately resultingin death unless diagnosed and treated before symptoms develop. ALD affects peopledifferently, but in my dad’s case, he lost his ability to talk, walk, swallow, and understandwhat was going on around him. Some males with ALD also experience vision and hearingloss.

ALD is an x-linked disorder which means it manifests on the x-chromosome. Sincemales (XY) only have one X chromosome and women (XX) have two, my fatherunavoidably passed the ALD gene to me, making me a carrier of the disease. ALD isknown to be a recessive disorder, which typically means that carriers are completelyasymptomatic. However, for ALD and a number of other x-linked, recessive, geneticdisorders, it has been determined that carriers often do develop symptoms of the disease,ranging from mild to severe. In fact, with ALD, recent studies have shown that over 85%of female carriers eventually develop symptoms, which can include difficulty walking,bladder and bowel dysfunction, and even cognitive impairment. There has not beensufficient medical research or attention with regard to the physical symptoms developedby x-linked carriers or their treatment, and in many cases the symptoms women carriersface are overlooked or misdiagnosed by the medical profession. Thus, many carriersthemselves have no idea their symptoms are related to the disease they carry.As a passionate feminist, I am well aware of the fact that males have traditionallycome first when it comes to research and medical treatment. Our symptoms oftentimes getbrushed off as PMS or anxiety. To me, the most nerve wracking part about being an ALDcarrier is the fact that there are no known measures I can take to prevent these symptomsor treat them if or when they arrive.

In addition to physical symptoms, female carriers have very little support withregard to difficult decisions they must make concerning their reproductive options. All x-linked recessive carriers have a 50% chance of passing the defective gene to theirchildren. Since ALD is such a horrific disease, If I decide to have children in the future,the route I will take to ensure I have healthy children is in vitro fertilization (IVF) withpreimplantation genetic diagnosis (PGD). This would allow me to have children who arecompletely free of the defective ALD gene. Unfortunately, many states do not requireinsurance companies to financially cover this procedure, and as it is extremely expensive,many women carriers are simply unable to afford it and are left with a very difficultdecision: whether to risk having a child with a severe genetic disease or to give up theirdream of having biological children.

Being a carrier of an x-linked disease can be incredibly isolating. However, I havebeen fortunate to have met and formed relationships with so many brave carriers of ALDand other x-linked disorders, and that has made me feel much less alone in this journey. Ithas also spurred me to take action. Last year, I created a 501(c)3 nonprofit organizationcalled Remember the Girls, to raise awareness of the issues we as carriers, face. I hope tocontinue to build Remember the Girls, and create an coalition which unites female carriersof x-linked genetic disorders and raises awareness of their unique and pressing issues. Ascarriers, we deserve to be seen, we deserve gender-specific research, and we deserve to beable to afford to have children without the fear of passing our disease on to them.Although I am unsure of what else the future holds for me, one thing I know forsure is that I will spend the rest of my life advocating for carriers, rare disease patients,and their families.

For more information, go to rememberthegirls.org, request to join our closedFacebook group and/or follow me on Twitter & Instagram @taylorkane23.

Taylor Kane is an undergraduate student at The George Washington University majoringin political communication and minoring in women’s, gender, and sexuality studies.Taylor has been an ALD advocate for as long as she can remember, and is excited to beworking with and fighting alongside carriers of ALD and other x-linked disorders. HerTwitter & Instagram handle is @taylorkane23.